(Q41661800)

6 October 2017

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome (English)

1 reference

fatal multiple mitochondrial dysfunctions syndrome

6 October 2017

0 references

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Stephanie L. Bielas

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Katta Mohan Girisha

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

2

Malavika Hebbar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

author name string

Anju Shukla

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Anshika Srivastava

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Rajagopal Kadavigere

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Anil Kanthi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Oliver Brandau

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

language of work or name

1 reference

30 March 2017

1 reference

Journal of Human Genetics

6 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

volume

62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

page(s)

723-727

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/jhg.2017.35

3 June 2020

exact match

0 references

cites work

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

SeqMule: automated pipeline for analysis of human exome/genome sequencing data

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

Better prediction of functional effects for sequence variants

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

[2Fe-2S] cluster transfer in iron-sulfur protein biogenesis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

A general framework for estimating the relative pathogenicity of human genetic variants

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

Maturation of cytosolic and nuclear iron-sulfur proteins

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

Specialized function of yeast Isa1 and Isa2 proteins in the maturation of mitochondrial [4Fe-4S] proteins

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

The variant call format and VCFtools

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

Human ISCA1 interacts with IOP1/NARFL and functions in both cytosolic and mitochondrial iron-sulfur protein biogenesis.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

Maturation of iron-sulfur proteins in eukaryotes: mechanisms, connected processes, and diseases

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

SNAP: predict effect of non-synonymous polymorphisms on function

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

Iron-sulphur cluster biogenesis and mitochondrial iron homeostasis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

Formation of [4Fe-4S] clusters in the mitochondrial iron-sulfur cluster assembly machinery

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5484744

18 August 2018

Identifiers

DOI

10.1038/JHG.2017.35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356563%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference